The following texts are the property of their respective authors and we thank them for giving us the opportunity to share for free to students, teachers and users of the web their texts will used only for illustrative educational and. A genetic disorder caused by having an extra chromosome 18 in some or all of the bodys cells. The first autosomal abnormality described in man by john langdon down 1966 was known as down s syndrome, more commonly used as mongolism. Enter your mobile number or email address below and well send you a link to download the free kindle app. Instead of the usual 46 chromosomes present in each cell, lejeune observed 47 in the cells of individuals with down syndrome. Down syndrome can affect a persons cognitive ability and physical growth, cause mild to moderate developmental issues, and present a higher risk of some health problems. The psychobiology of down syndrome issues in the biology. Definition of edwards syndrome nci dictionary of cancer. Down syndrome also called down s syndrome encompasses a number of genetic disorders, of which trisomy 21 a nondisjunction is the most representative, causing highly variable degrees of learning difficulties and physical disabilities individuals carrying three copies of chromosome 21 in the cells of their body are said to have down syndrome or trisomy 21. Diagnosing genetic disorders a genetic disorder that is caused by a mutation can be inherited. Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal human development, causing the characteristic features of down s syndrome however, scientists are still trying to understand the exact mechanisms behind the disorder and research is ongoing. Warren center for genetics university of lliinois college of medicine chicago, ilknois 60612 introduction down syndrome is unique because of its preeminent role in shedding light. A human genetic disease resulting from having an extra chromosome 21, characterized by mental retardation and heart and respiratory defects.
Down syndrome definition and meaning collins english. Edwards syndrome is marked by a low birth weight and certain abnormal features. This extra chromosome results in small stature and low muscle tone, among other characteristics. Ds individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. Down syndrome trisomy 21 down syndrome is a genetic disease resulting from a chromosomal abnormality. Marshall, and is sponsored by the national down syndrome society.
Down syndrome occurs when a baby is born with an extra chromosome 21. Meaning, pronunciation, translations and examples log in dictionary. Turners syndrome definition and examples biology online. Free biology and life science resources at your fingertips. An individual with down syndrome inherits all or part of an extra copy of chromosome 21. Smith department of pediatrics section of genetics illinois masonic medical center chicago, iliinois 60657 stephen t. Down syndrome ds is one of the commonest disorders with huge medical and social cost.
Ds is associated with number of phenotypes including congenital heart defects, leukemia, alzeihmers disease, hirschsprung disease etc. Physical and physiological features of down s syndrome 3. Cultural definitions for downs syndrome downs syndrome a congenital condition, caused by an abnormality in the chromosomes, marked by moderate to severe mental retardation and changes in. Learn downs syndrome biology 101 with free interactive flashcards. The psychobiology of down syndrome is included in the series issues in the biology of language and cognition, edited by john c. Down syndrome meaning and definition of down syndrome in biology meaning of down syndrome. Find the definition of turners syndrome in the largest biology dictionary online.
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